Canonical Allele Identifier: CA348161499

Gene: GLI2

Linked Data

• ClinVar Variation Id: 443998
• ClinVar RCV Id: RCV000510676
• dbSNP Id: rs772017351
• MyVariant Identifiers: chr2:g.121736067G>C (hg19) ; chr2:g.120978491G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120978491G>C , CM000664.2:g.120978491G>C	GRCh38
NC_000002.11:g.121736067G>C , CM000664.1:g.121736067G>C	GRCh37
NC_000002.10:g.121452537G>C	NCBI36
NG_009030.1:g.186201G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.1375G>C MANE Select	ENSP00000354586.5:p.Ala459Pro
ENST00000452319.6:c.1426G>C	ENSP00000390436.1:p.Ala476Pro
ENST00000314490.15:c.439G>C	ENSP00000312694.12:p.Ala147Pro
ENST00000341310.10:c.*474G>C	ENSP00000344473.6:n.*474G>C
ENST00000361492.8:c.1426G>C	ENSP00000354586.4:p.Ala476Pro
ENST00000435313.6:n.1400G>C
ENST00000437950.5:c.*525G>C	ENSP00000415773.1:n.*525G>C
ENST00000438299.5:c.*525G>C	ENSP00000400593.1:n.*525G>C
ENST00000445186.5:c.*525G>C	ENSP00000397488.1:n.*525G>C
ENST00000452319.5:c.1426G>C	ENSP00000390436.1:p.Ala476Pro
ENST00000452692.5:c.*474G>C	ENSP00000403715.1:n.*474G>C
NM_005270.4:c.1426G>C	NP_005261.2:p.Ala476Pro
XM_006712422.1:c.1375G>C	XP_006712485.1:p.Ala459Pro
XM_011510969.1:c.1408G>C	XP_011509271.1:p.Ala470Pro
XM_011510970.1:c.1285G>C	XP_011509272.1:p.Ala429Pro
XM_011510971.1:c.1231G>C	XP_011509273.1:p.Ala411Pro
XM_011510972.1:c.1231G>C	XP_011509274.1:p.Ala411Pro
XM_011510973.1:c.1051G>C	XP_011509275.1:p.Ala351Pro
XM_011510974.1:c.1000G>C	XP_011509276.1:p.Ala334Pro
XM_006712422.3:c.1375G>C	XP_006712485.1:p.Ala459Pro
XM_011510969.2:c.1678G>C	XP_011509271.2:p.Ala560Pro
XM_011510970.2:c.1285G>C	XP_011509272.1:p.Ala429Pro
XM_011510971.2:c.1231G>C	XP_011509273.1:p.Ala411Pro
XM_011510972.2:c.1327G>C	XP_011509274.2:p.Ala443Pro
XM_011510973.2:c.1051G>C	XP_011509275.1:p.Ala351Pro
XM_011510974.2:c.1000G>C	XP_011509276.1:p.Ala334Pro
XM_017003818.1:c.1627G>C	XP_016859307.1:p.Ala543Pro
XM_024452794.1:c.1426G>C	XP_024308562.1:p.Ala476Pro
XM_024452795.1:c.1426G>C	XP_024308563.1:p.Ala476Pro
NM_001371271.1:c.1426G>C	NP_001358200.1:p.Ala476Pro
NM_001374353.1:c.1375G>C MANE Select	NP_001361282.1:p.Ala459Pro
NM_001374354.1:c.1000G>C	NP_001361283.1:p.Ala334Pro
NM_005270.5:c.1426G>C	NP_005261.2:p.Ala476Pro